Hemosiderosis with diabetes mellitus in untransfused Hemoglobin H disease.
A 37-year-old untransfused, non-drinking man with Hemoglobin H-CS disease presented with insulin-dependent diabetes mellitus, markedly elevated serum ferritin level, and marked iron deposition in hepatocytes. He did not carry either of the two common mutations of the HLA-H gene for hereditary hemochromatosis, namely, Cys282Tyr and His68Asp, nor did he have the associated HLA marker (HLA-A3, B7 nor B-14) for the disease. Patient with HbH disease should be monitored for iron overload.
Chim
C S
CS
Department of Medicine, Queen Mary Hospital, Hong Kong.
Chan
V
V
Todd
D
D
D000328:Adult; D048909:Diabetes Complications; D003920:Diabetes Mellitus / Q000097:blood; D006680:HLA Antigens / Q000235:genetics; D000071020:Hemochromatosis Protein; D006486:Hemosiderosis / Q000150:complications*; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D008297:Male; D008565:Membrane Proteins; D009154:Mutation; D017085:alpha-Thalassemia / Q000150:complications* / Q000235:genetics
C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins